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Article

Human perforin gene variation is geographically distributed.

Molecular genetics & genomic medicine - 1 Jan 2018

Willenbring Robin C, Ikeda Yasuhiro, Pease Larry R, Johnson Aaron J

Abstract excerpt

BACKGROUND: Deleterious mutations in PRF1 result in lethal, childhood disease, familial hemophagocytic lymphohistiocytosis type 2 (FHL 2). However, not all mutations in PRF1 are deleterious and result in FHL 2. Currently, these nondeleterious mutations are being investigated in the onset of numerous disorders, such as lymphomas and diabetes. Yet, there is still an overwhelmingly large amount of PRF1 mutations...

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Share to Amino Acid Sequence
Share to Databases, Nucleic Acid
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Perforin

Share to Pore Forming Cytotoxic Proteins

Source

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Identifiers

PMID: 29216683
DOI: 10.1002/mgg3.344
PMCID: PMC5823683

Genes

PRF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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